Mutagenetix > Incidental Mutation

Incidental Mutation 'R6513:Shcbp1'

520011

Institutional Source

Beutler Lab

Gene Symbol

Shcbp1

Ensembl Gene

ENSMUSG00000022322

Gene Name

Shc SH2-domain binding protein 1

Synonyms

mPAL

MMRRC Submission

044640-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6513 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4785976-4829549 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4794507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 429 (M429V)

Ref Sequence

ENSEMBL: ENSMUSP00000022945 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022945]

AlphaFold

Q9Z179

Predicted Effect

probably benign
Transcript: ENSMUST00000022945
AA Change: M429V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022945
Gene: ENSMUSG00000022322
AA Change: M429V

Domain	Start	End	E-Value	Type
low complexity region	210	219	N/A	INTRINSIC
low complexity region	262	275	N/A	INTRINSIC
PbH1	428	451	8.61e3	SMART
PbH1	452	473	2.38e3	SMART
PbH1	474	496	9.62e2	SMART
PbH1	497	518	1.07e2	SMART
PbH1	526	548	1.74e2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207665

Predicted Effect

probably benign
Transcript: ENSMUST00000207876

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208856

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.4%

Validation Efficiency

98% (62/63)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal viability, fertility and T cell development but show decreased susceptibility to experimental autoimmune encephalomyelitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	T	C	16: 90,852,654 (GRCm39)	S161G	probably benign	Het
Ankfy1	G	A	11: 72,621,308 (GRCm39)	R198Q	possibly damaging	Het
Ankrd11	A	G	8: 123,616,919 (GRCm39)	V2290A	probably benign	Het
Aox4	A	G	1: 58,252,212 (GRCm39)	N29S	probably benign	Het
Arhgap17	T	C	7: 122,891,379 (GRCm39)	R592G	possibly damaging	Het
Caap1	A	T	4: 94,389,640 (GRCm39)	D231E	possibly damaging	Het
Cabp1	T	A	5: 115,307,193 (GRCm39)	M165L	possibly damaging	Het
Calhm4	T	A	10: 33,917,630 (GRCm39)	R274*	probably null	Het
Cep72	A	T	13: 74,206,582 (GRCm39)	L73H	probably damaging	Het
Cfap74	A	G	4: 155,525,743 (GRCm39)	S731G	probably null	Het
Dsc2	T	C	18: 20,179,295 (GRCm39)	I258V	probably benign	Het
Dsg1c	T	G	18: 20,407,687 (GRCm39)	N344K	probably benign	Het
Enah	A	G	1: 181,841,920 (GRCm39)		probably benign	Het
Fbn1	T	A	2: 125,225,591 (GRCm39)	S554C	probably damaging	Het
Fkrp	C	A	7: 16,545,037 (GRCm39)	R275L	possibly damaging	Het
Gbp4	C	T	5: 105,270,986 (GRCm39)	G215D	possibly damaging	Het
Gli2	G	A	1: 118,783,284 (GRCm39)	L239F	probably damaging	Het
Gpr146	A	G	5: 139,378,573 (GRCm39)	D125G	probably damaging	Het
Hectd4	C	A	5: 121,494,259 (GRCm39)		probably null	Het
Invs	G	A	4: 48,397,534 (GRCm39)	V370I	possibly damaging	Het
Kdm2b	A	G	5: 123,018,302 (GRCm39)	V1040A	probably damaging	Het
Kidins220	T	A	12: 25,088,434 (GRCm39)	V1059D	possibly damaging	Het
Kif26a	T	A	12: 112,141,926 (GRCm39)	S727T	probably damaging	Het
Kifbp	T	C	10: 62,410,813 (GRCm39)		probably null	Het
Klk1b27	A	G	7: 43,705,169 (GRCm39)	H112R	probably benign	Het
Krt72	T	G	15: 101,685,187 (GRCm39)		probably null	Het
Lactb	C	T	9: 66,878,172 (GRCm39)	R219H	probably damaging	Het
Lrig2	A	T	3: 104,373,045 (GRCm39)	I612N	probably damaging	Het
Meaf6	A	C	4: 124,983,697 (GRCm39)	N51T	probably damaging	Het
Mtap	A	G	4: 89,066,498 (GRCm39)	T36A	possibly damaging	Het
Myo3a	G	A	2: 22,412,143 (GRCm39)	G713S	probably damaging	Het
Nr4a3	C	T	4: 48,083,255 (GRCm39)	T596I	probably damaging	Het
Or10ak14	A	T	4: 118,611,224 (GRCm39)	C172*	probably null	Het
Or4f14	C	G	2: 111,743,228 (GRCm39)	G16R	possibly damaging	Het
Pam	A	G	1: 97,765,752 (GRCm39)	V759A	possibly damaging	Het
Pcare	T	A	17: 72,051,701 (GRCm39)	E1217V	probably damaging	Het
Pds5a	T	A	5: 65,772,944 (GRCm39)	I1220F	probably benign	Het
Phldb2	T	A	16: 45,568,240 (GRCm39)	M1222L	possibly damaging	Het
Phospho1	C	T	11: 95,721,513 (GRCm39)	A61V	possibly damaging	Het
Pnpla7	G	A	2: 24,906,550 (GRCm39)	V638I	possibly damaging	Het
Pramel34	C	A	5: 93,785,391 (GRCm39)		probably null	Het
Ptf1a	T	A	2: 19,451,848 (GRCm39)	D282E	probably damaging	Het
Ptgs2	A	T	1: 149,975,879 (GRCm39)		probably benign	Het
Racgap1	T	C	15: 99,522,156 (GRCm39)	R471G	probably damaging	Het
Rptn	T	C	3: 93,303,419 (GRCm39)	S251P	possibly damaging	Het
Shprh	T	C	10: 11,062,637 (GRCm39)	L1248P	probably damaging	Het
Son	T	C	16: 91,456,835 (GRCm39)		probably benign	Het
Sppl3	T	C	5: 115,233,995 (GRCm39)	L355P	probably damaging	Het
Tbc1d31	A	T	15: 57,818,778 (GRCm39)	R794W	probably damaging	Het
Telo2	T	C	17: 25,320,386 (GRCm39)	Y766C	probably damaging	Het
Tfr2	A	G	5: 137,572,793 (GRCm39)		probably null	Het
Tle4	T	C	19: 14,429,056 (GRCm39)	D722G	probably damaging	Het
Tprg1l	A	G	4: 154,243,862 (GRCm39)	V98A	probably benign	Het
Trak1	C	T	9: 121,272,822 (GRCm39)	R237C	probably benign	Het
Vmn2r113	T	C	17: 23,177,715 (GRCm39)	I833T	probably damaging	Het
Vmn2r118	T	A	17: 55,915,093 (GRCm39)	S518C	probably damaging	Het
Vmn2r49	A	G	7: 9,710,524 (GRCm39)	I736T	probably damaging	Het
Wdr38	T	A	2: 38,889,970 (GRCm39)		probably null	Het
Wee2	A	G	6: 40,429,553 (GRCm39)	E180G	probably benign	Het
Zbtb1	T	C	12: 76,432,604 (GRCm39)	S197P	possibly damaging	Het
Zc3h7a	T	C	16: 10,976,629 (GRCm39)		probably null	Het
Zfp516	T	A	18: 82,973,835 (GRCm39)	L11Q	probably damaging	Het
Zfp623	G	A	15: 75,819,317 (GRCm39)	R91H	probably benign	Het
Zkscan7	G	A	9: 122,725,170 (GRCm39)	R713Q	probably benign	Het

Other mutations in Shcbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Shcbp1	APN	8	4,804,258 (GRCm39)	nonsense	probably null
IGL01330:Shcbp1	APN	8	4,786,372 (GRCm39)	missense	probably benign	0.00
IGL01878:Shcbp1	APN	8	4,799,721 (GRCm39)	missense	probably damaging	0.98
IGL02415:Shcbp1	APN	8	4,804,239 (GRCm39)	missense	possibly damaging	0.93
IGL02559:Shcbp1	APN	8	4,799,305 (GRCm39)	missense	probably damaging	0.98
IGL03171:Shcbp1	APN	8	4,789,166 (GRCm39)	missense	probably benign	0.05
IGL03348:Shcbp1	APN	8	4,815,089 (GRCm39)	missense	probably benign	0.10
R0102:Shcbp1	UTSW	8	4,794,452 (GRCm39)	missense	probably damaging	1.00
R0102:Shcbp1	UTSW	8	4,794,452 (GRCm39)	missense	probably damaging	1.00
R0729:Shcbp1	UTSW	8	4,786,297 (GRCm39)	missense	probably benign	0.05
R0743:Shcbp1	UTSW	8	4,814,906 (GRCm39)	missense	probably benign
R1413:Shcbp1	UTSW	8	4,791,968 (GRCm39)	critical splice acceptor site	probably null
R1630:Shcbp1	UTSW	8	4,798,763 (GRCm39)	nonsense	probably null
R1645:Shcbp1	UTSW	8	4,799,645 (GRCm39)	missense	probably benign	0.00
R3778:Shcbp1	UTSW	8	4,786,295 (GRCm39)	missense	probably benign	0.01
R4066:Shcbp1	UTSW	8	4,798,716 (GRCm39)	missense	probably damaging	0.98
R4232:Shcbp1	UTSW	8	4,786,372 (GRCm39)	missense	probably benign	0.06
R4524:Shcbp1	UTSW	8	4,789,193 (GRCm39)	missense	probably damaging	1.00
R4552:Shcbp1	UTSW	8	4,799,779 (GRCm39)	nonsense	probably null
R4623:Shcbp1	UTSW	8	4,789,178 (GRCm39)	missense	probably damaging	1.00
R4748:Shcbp1	UTSW	8	4,794,512 (GRCm39)	missense	probably damaging	1.00
R5093:Shcbp1	UTSW	8	4,789,214 (GRCm39)	missense	possibly damaging	0.68
R5152:Shcbp1	UTSW	8	4,786,138 (GRCm39)	missense	probably damaging	1.00
R5540:Shcbp1	UTSW	8	4,794,529 (GRCm39)	missense	probably damaging	1.00
R5758:Shcbp1	UTSW	8	4,799,355 (GRCm39)	splice site	probably null
R5878:Shcbp1	UTSW	8	4,798,742 (GRCm39)	missense	probably benign	0.04
R6062:Shcbp1	UTSW	8	4,814,905 (GRCm39)	missense	probably benign	0.13
R6366:Shcbp1	UTSW	8	4,799,380 (GRCm39)	missense	probably damaging	1.00
R6394:Shcbp1	UTSW	8	4,786,176 (GRCm39)	missense	probably damaging	0.99
R6696:Shcbp1	UTSW	8	4,789,262 (GRCm39)	missense	probably damaging	1.00
R7014:Shcbp1	UTSW	8	4,804,234 (GRCm39)	missense	probably damaging	1.00
R7334:Shcbp1	UTSW	8	4,804,310 (GRCm39)	missense	probably damaging	1.00
R7334:Shcbp1	UTSW	8	4,791,876 (GRCm39)	missense	probably damaging	1.00
R7420:Shcbp1	UTSW	8	4,798,737 (GRCm39)	missense	probably benign	0.02
R7710:Shcbp1	UTSW	8	4,814,965 (GRCm39)	missense	probably benign	0.14
R7720:Shcbp1	UTSW	8	4,798,720 (GRCm39)	missense	probably damaging	1.00
R7756:Shcbp1	UTSW	8	4,794,545 (GRCm39)	missense	probably damaging	0.97
R7769:Shcbp1	UTSW	8	4,789,232 (GRCm39)	missense	probably damaging	1.00
R7943:Shcbp1	UTSW	8	4,798,812 (GRCm39)	missense	possibly damaging	0.78
R8114:Shcbp1	UTSW	8	4,817,930 (GRCm39)	missense	probably damaging	1.00
R8386:Shcbp1	UTSW	8	4,817,951 (GRCm39)	missense	probably damaging	1.00
R8435:Shcbp1	UTSW	8	4,798,734 (GRCm39)	missense	probably benign	0.04
R9234:Shcbp1	UTSW	8	4,798,800 (GRCm39)	missense	possibly damaging	0.77
R9313:Shcbp1	UTSW	8	4,794,518 (GRCm39)	missense	probably damaging	1.00
X0062:Shcbp1	UTSW	8	4,789,249 (GRCm39)	missense	probably damaging	0.99
Z1176:Shcbp1	UTSW	8	4,815,056 (GRCm39)	missense	possibly damaging	0.59
Z1177:Shcbp1	UTSW	8	4,786,146 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATACGAGTTATTAATCTGCCTCCC -3'
(R):5'- TGCTCCCTCTGACCATGAAATC -3'

Sequencing Primer
(F):5'- CTTTCATGCACAGTCGAC -3'
(R):5'- GTGGACCTAGGCTACTCTACTCAG -3'

Posted On

2018-06-06